Article
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
American journal of medical genetics. Part A - 1 Oct 2008
Schorry E K, Keddache M, Lanphear N, Rubinstein J H, Srodulski S, Fletcher D, Blough-Pfau R I, Grabowski G A
Abstract excerpt
Rubinstein-Taybi syndrome (RTS) is a rare multiple congenital anomaly/intellectual impairment syndrome. Loss of function in CREBBP or EP300 genes has been found in about 50% of patients with RTS. Genotype-phenotype correlations were investigated in 93 patients meeting diagnostic criteria for RTS during 2 international RTS family conferences. Mutation analysis of CREBBP was performed on all 31 coding exons and...
Topics
- Alternative Splicing
- Amino Acid Substitution
- Autistic Disorder
- CREB-Binding Protein
- Cohort Studies
- Exons
- Gene Deletion
- Genotype
- Growth Disorders
- In Situ Hybridization, Fluorescence
- Mutation